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Case Reports: Rare disease
Rare cause of pericardial effusion: ‘Erdheim-Chester disease’
  1. Haider Imtiaz1,
  2. Mohsin Hussein2,
  3. Daniel Chan3 and
  4. Mamta Garg4
  1. 1ESM, University Hospitals of Leicester NHS Trust, Leicester, UK
  2. 2Radiology, University Hospitals of Leicester NHS Trust, Leicester, UK
  3. 3Cardiology, Glenfield Hospital, Leicester, UK
  4. 4Haematology, University Hospitals of Leicester NHS Trust, Leicester, UK
  1. Correspondence to Dr Haider Imtiaz; haider.a.imtiaz{at}uhl-tr.nhs.uk

Abstract

This report details the case of a woman in her 50s who presented with symptoms of congestive heart failure and raised inflammatory biochemical markers. Her investigations included an echocardiogram, which revealed a large pericardial effusion and a subsequent CT-thorax/abdomen/pelvis showing extensive retroperitoneal, pericardial and periaortic inflammation and soft-tissue infiltration. Genetic analysis of histopathological samples detected a V600E or V600Ec missense variant within codon 600 of the BRAF genewith BRAF variants, confirming the diagnosis of Erdheim-Chester disease (ECD).

The patient’s clinical management involved several treatments and interventions with input from a variety of clinical specialties. This included the cardiology team for pericardiocentesis, the cardiac surgical team for pericardiectomy due to recurrent pericardial effusions and finally the haematology team for further specialist treatment with pegylated interferon and consideration of BRAF inhibitor therapy. The patient became stable following treatment with significant improvement in her heart failure symptoms. She remains under regular joint cardiology and haematology team follow-up. The case highlighted the importance of using a multidisciplinary approach to best manage the multisystem involvement of ECD.

  • Pericardial disease
  • Heart failure
  • Haematology (drugs and medicines)

http://dx.doi.org/10.1136/bcr-2022-254064

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    Footnotes

    • Contributors The patient is under the care of DC and MG who planned and advised on writing this case report. DC diagnosed and MG treated the patient. All authors contributed to the write up.The case report was written by HI. This involved consenting the patient, deciding the tittle, writing the background, summary, case presentation, differentials, treatment, outcome and discussion section. MH acquired all the images for the investigation section and also wrote captions for all the figures. He also reviewed the paper. After completion, the paper was reviewed by DC and MG who provided a factual review and helped edit the paper.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.